ClinVar Miner

Submissions for variant NM_001015880.2(PAPSS2):c.381+22_381+24dup

dbSNP: rs367885911
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002072242 SCV002454834 likely benign Spondyloepimetaphyseal dysplasia, PAPSS2 type 2022-08-16 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573556 SCV001799607 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727889 SCV001969580 benign not specified no assertion criteria provided clinical testing

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